Selected Recent Publications
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Wentworth KL, Lalonde RL, Groppe JC, Brewer N, Moody T, Hansberry S, Taylor K, Shore EM, Kaplan FS, Pignolo RJ, Yelick PC, Hsiao EC. Functional testing of BMP pathway variants identified on whole exome sequencing in a patient with delayed-onset fibrodysplasia ossificans progressiva (FOP) using ACVR1R206H -specific human cellular and zebrafish models. J Bone Miner Res. 2022 Sep 25. doi: 10.1002/jbmr.4711. Epub ahead of print. PMID: 36153796.
Yu X, Ton AN, Niu Z, Morales BM, Chen J, Braz J, Lai MH, Barruet E, Liu H, Cheung K, Ali S, Chan T, Bigay K, Ho J, Nikolli I, Hansberry S, Wentworth K, Kriegstein A, Basbaum A, Hsiao EC. An ACVR1 activating mutation causes neuropathic pain and sensory neuron hyperexcitability in humans. Pain. 2022 Apr 20. doi: 10.1097/j.pain.0000000000002656. Epub ahead of print. PMID: 35442931.
Pignolo RJ, Baujat G, Hsiao EC, Keen R, Wilson A, Packman J, Strahs AL, Grogan DR, Kaplan FS. Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP): Results of a Randomized, Placebo-Controlled, Double-Blind Phase 2 Trial. J Bone Miner Res. 2022 Jul 19. doi: 10.1002/jbmr.4655. Epub ahead of print. PMID: 35854638.
Barruet E, Garcia SM, Wu J, Morales BM, Tamaki S, Moody T, Pomerantz JH, Hsiao EC. Modeling the ACVR1R206H mutation in human skeletal muscle stem cells. Elife. 2021 Nov 10;10:e66107. doi: 10.7554/eLife.66107. PMID: 34755602; PMCID: PMC8691832.
Kou S, Kile S, Kambampati SS, Brady EC, Wallace H, De Sousa CM, Cheung K, Dickey L, Wentworth KL, Hsiao EC. Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva. Orphanet J Rare Dis. 2022 Mar 4;17(1):107. doi: 10.1186/s13023-022-02246-4. PMID: 35246171; PMCID: PMC8894823.
Huppert LA, Hsu G, Elnachef N, Flint L, Frank JA, Gensler LS, Hsiao EC, Khanna RR, Qasim A, Schwartz BS, Widera E, Zapata C, Babik JM. A single center evaluation of applicant experiences in virtual interviews across eight internal medicine subspecialty fellowship programs. Med Educ Online. 2021 Dec; 26(1):1946237. PMID: 34187346. PMCID: PMC8253192
Pignolo RJ, Hsiao EC, Baujat G, Lapidus D, Sherman A, Kaplan FS. Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization. Orphanet J Rare Dis. 2021 08 05; 16(1):350. PMID: 34353327. PMCID: PMC8340531
Matsuo K, Lepinski A, Chavez RD, Barruet E, Pereira A, Moody TA, Ton AN, Sharma A, Hellman J, Tomoda K, Nakamura MC, Hsiao EC. ACVR1R206H extends inflammatory responses in human induced pluripotent stem cell-derived macrophages. Bone. 2021 Jul 23:116129. doi: 10.1016/j.bone.2021.116129. Epub ahead of print. PMID: 34311122.
Kou S, De Cunto C, Baujat G, Wentworth KL, Grogan DR, Brown MA, Di Rocco M, Keen R, Al Mukaddam M, le Quan Sang KH, Masharani U, Kaplan FS, Pignolo RJ, Hsiao EC. Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva. Orphanet J Rare Dis. 2020 07 29; 15(1):193. PMID: 32727600. PMCID: PMC7389682
Singh S, Kidane J, Wentworth KL, Motamedi D, Morshed S, Schober AE, Hsiao EC. Surgical management of bilateral hip fractures in a patient with fibrodysplasia ossificans progressiva treated with the RAR-gamma agonist palovarotene: a case report. BMC Musculoskelet Disord. 2020 Apr 03; 21(1):204. PMID: 32245464. PMCID: PMC7126417
Huppert LA, Hsiao EC, Cho KC, Marquez C, Chaudhry RI, Frank J, Goglin SE, Hsu G, Kathpalia P, Khanna R, Kompala T, Rao MN, Bower BA, Trafas V, Santhosh L, Schwartz BS, Babik JM. Virtual Interviews at Graduate Medical Education Training Programs: Determining Evidence-Based Best Practices. Acad Med. 2020 Dec 8. doi: 10.1097/ACM.0000000000003868. Epub ahead of print. PMID: 33298691.
